Xcode Life

Condition: Hypercholesterolemia, Familial

rs144467873 in APOB gene and Hypercholesterolemia, Familial

PMID 22353362 2012 Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.

PMID 27783906 2016 Child-Parent Familial Hypercholesterolemia Screening in Primary Care.

PMID 9603795 1998 Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.

PMID 10952765 2000 Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

PMID 24987033 2014 Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

PMID 17160438 2007 ApoB-100 R3500Q mutation in the Lebanese population: prevalence and historical review of the literature.

PMID 26036859 2016 Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

PMID 2563166 1989 Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

PMID 11781700 2001 Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.

PMID 11115503 2001 The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 11494965 2001 High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects.

rs10417403 in C3P1 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs16042 in CACNA1A gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs1529711 in CARM1 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs8112449 in CDC37 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs2967890 in FARSA;FARSA-AS1 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs2304240 in ICAM3 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs387865 in KANK2 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs112029328 in LDLR gene and Hypercholesterolemia, Familial

PMID 7718019 1994 Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects.

PMID 8829662 1996 Two point mutations (313 + 1G --> A and 313 + 1G --> T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia.

PMID 7616128 1995 Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.

PMID 19361455 2009 Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.

PMID 10634824 2000 Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia.

PMID 22390909 2012 Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.

PMID 25487149 2015 Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

PMID 20045108 2010 Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.

PMID 20809525 2010 Molecular spectrum of autosomal dominant hypercholesterolemia in France.

PMID 19318025 2009 Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

PMID 10790219 2000 Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene.

PMID 14974088 2004 Molecular characterization of familial hypercholesterolemia in German and Greek patients.

PMID 10441197 1999 Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.

PMID 10532689 1999 Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 20145306 2010 Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

PMID 16159606 2005 Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.

PMID 12436241 2002 Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

PMID 10782930 2000 Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.

PMID 16542394 2006 Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.

PMID 11933210 2002 Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.

PMID 15359125 2004 Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 20506408 2010 Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.

PMID 15199436 2004 Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.

PMID 15015036 2004 Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.

PMID 7489239 1995 Ten LDL receptor mutants explain one third of familial hypercholesterolemia in a German sample.

PMID 1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

PMID 11754108 2002 Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

PMID 15241806 2004 Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

PMID 2088165 1990 The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.

PMID 1301940 1992 Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.

PMID 9974426 1999 Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.

PMID 15701167 2005 Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

PMID 9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

PMID 12553167 2002 The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

PMID 2318961 1990 Common low-density lipoprotein receptor mutations in the French Canadian population.

PMID 8645371 1996 The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark.

PMID 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

PMID 8098448 1993 Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia.

PMID 9676383 1998 Mutation analysis of exon 3 of the LDL receptor gene in patients with severe hypercholesterolemia.

PMID 18263977 2008 Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene.

PMID 16627557 2006 Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?

PMID 15556092 2004 Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.

PMID 15556093 2004 Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis.

PMID 2760205 1989 Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.

PMID 21310417 2011 An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

PMID 25647241 2015 Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

PMID 17335829 2007 A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.

PMID 2029498 1991 Low density lipoprotein kinetics in a family having defective low density lipoprotein receptors in which hypercholesterolemia is suppressed.

PMID 17539906 2007 Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.

PMID 9484998 1998 Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada.

PMID 7947594 1994 Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia.

PMID 22698793 2012 The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

PMID 19026292 2008 Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.

PMID 7894220 1994 European workshop on LDL receptor defects. European Working Group on Familial Hypercholesterolaemia.

PMID 9654205 1998 LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias.

PMID 8096412 1993 Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia.

PMID 8828982 1996 Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population.

PMID 18279815 2008 Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.

PMID 9016531 1997 Software and database for the analysis of mutations in the human LDL receptor gene.

PMID 14993243 2004 Degradation of the LDL receptor class 2 mutants is mediated by a proteasome-dependent pathway.

PMID 12124988 2002 The UMD-LDLR database: additions to the software and 490 new entries to the database.

PMID 10422803 1999 An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).

PMID 14508510 2003 Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.

PMID 12113284 2002 Increasing the sensitivity of single-strand conformation polymorphism analysis of the LDLR gene mutations in brazilian patients with familial hypercholesterolemia.

PMID 1319734 1992 Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

PMID 14512370 2003 Magnitude of HDL cholesterol variation after high-dose atorvastatin is genetically determined at the LDL receptor locus in patients with homozygous familial hypercholesterolemia.

PMID 10407508 1999 Unusual inheritance of severe primary hypercholesterolemia.

PMID 11381031 2001 Sequence diversity in genes of lipid metabolism.

PMID 10208479 1999 The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.

PMID 1867200 1991 A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

PMID 7649546 1995 Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia.

PMID 18096825 2008 Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.

PMID 9664576 1998 Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.

PMID 21382890 2011 Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

PMID 7718024 1994 Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics.

PMID 27680772 2016 Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.

PMID 8093663 1993 Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

PMID 26892515 2016 The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

PMID 23669246 2013 Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

PMID 22883975 2012 Genetic analysis of familial hypercholesterolaemia in Western Australia.

PMID 2569482 1989 Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.

PMID 19467224 2009 An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.

PMID 11810272 2001 The molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 9409298 1997 Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group.

PMID 8784348 1996 Protein folding and calcium binding defects arising from familial hypercholesterolemia mutations of the LDL receptor.

PMID 9157944 1997 Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia.

PMID 8882879 1996 Molecular genetics of familial hypercholesterolemia in Israel.

PMID 19118540 2009 Evaluation of high-resolution melting analysis for screening the LDL receptor gene.

PMID 8599353 1995 FH Tulsa-1 and -2: two unique alleles for familial hypercholesterolemia presenting in an affected two-year-old African-American male.

PMID 18677035 2008 The epidermal growth factor homology domain of the LDL receptor drives lipoprotein release through an allosteric mechanism involving H190, H562, and H586.

PMID 19843101 2010 Mutation screening in patients for familial hypercholesterolaemia (ADH).

PMID 17094996 2007 Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.

PMID 12205127 2002 The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels.

PMID 7903864 1994 Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

PMID 16389549 2006 Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

PMID 28159968 2017 Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia.

PMID 12837857 2003 Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese.

PMID 21722902 2011 Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.

PMID 7789953 1995 Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia.

PMID 17087781 2006 Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan.

PMID 26343872 2015 Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis.

PMID 21475731 2011 Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.

PMID 11462246 2001 Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

PMID 16250003 2005 Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 10978268 2000 Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.

PMID 20736250 2010 A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100.

PMID 10735632 2000 Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

PMID 21418584 2011 Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

PMID 19319977 2009 The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.

PMID 11668627 2001 Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

PMID 21145767 2011 Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation.

PMID 1959928 1991 "Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the ""Lebanese"" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor."

PMID 3025214 1987 The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.

PMID 25461735 2015 Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

PMID 12406975 2002 Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.

PMID 1453433 1992 High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia.

PMID 14209286 1964 THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA.

PMID 16092059 2005 Mutations in low-density lipoprotein receptor gene as a cause of hypercholesterolemia in Taiwan.

PMID 3924410 1985 Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain.

PMID 1677927 1991 Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.

PMID 3430554 1987 Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia.

PMID 26342331 2015 Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): a reappraisal by using a resequencing approach.

PMID 2565980 1989 Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus.

PMID 7773731 1995 FH Afrikaner-3 LDL receptor mutation results in defective LDL receptors and causes a mild form of familial hypercholesterolemia.

PMID 2799589 1989 The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.

PMID 24014831 2013 Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia.

PMID 1734722 1992 A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.

PMID 17142622 2006 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

PMID 10559517 1999 Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia.

PMID 7573037 1995 Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.

PMID 18325082 2008 Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.

PMID 7603991 1995 Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor.

PMID 20828696 2010 Update of the Portuguese Familial Hypercholesterolaemia Study.

PMID 7548065 1995 Disulfide bridges of a cysteine-rich repeat of the LDL receptor ligand-binding domain.

PMID 20236128 2010 Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.

PMID 24627126 2014 Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia.

PMID 9678702 1998 Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.

PMID 7979249 1994 Structures and functions of multiligand lipoprotein receptors: macrophage scavenger receptors and LDL receptor-related protein (LRP).

PMID 11298688 2001 A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia.

PMID 12417285 2002 Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.

PMID 11313767 2001 A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

PMID 16465405 2006 Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.

PMID 12009418 2002 "A ""de novo"" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia."

PMID 18400033 2008 Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.

PMID 11851376 2001 Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics.

PMID 15823280 2005 Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study.

PMID 26036859 2016 Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

PMID 26046366 2015 Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

PMID 27765764 2016 Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.

PMID 17196209 2008 Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening.

PMID 15864114 2005 Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia.

PMID 21925044 2011 Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.

PMID 25463123 2014 Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.

PMID 21865347 2011 An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

PMID 18206115 2008 Development of a universal chemiluminometric genotyping method for high-throughput detection of 7 LDLR gene mutations in Greek population.

PMID 26238499 2015 Molecular-genetic aspects of familial hypercholesterolemia.

PMID 11139254 2001 Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.

PMID 20663204 2010 Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.

PMID 11641914 2002 [Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in the low-density lipoprotein receptor in patients with familial hypercholesterolemia from St. Petersburg].

PMID 19446849 2009 The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

PMID 8697568 1996 High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing.

PMID 11196104 2000 Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.

PMID 10657581 2000 Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country.

PMID 9852677 1998 Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.

PMID 26361156 2015 Universal Screening for Familial Hypercholesterolemia in Children.

PMID 23130880 2013 Mutation detection in Croatian patients with familial hypercholesterolemia.

PMID 19837725 2010 Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.

PMID 11317361 2001 This report describes seven LDLR gene mutations accounting for FH in Northwestern Greece (81T>G, 517T>C, 858C>A, 1285G>A, 1352T>C, 1646G>A and 1775G>A) and their geographic distribution.

PMID 9544850 1998 Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands.

PMID 16314194 2006 Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.

PMID 11668640 2001 Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.

PMID 1352322 1992 Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia.

PMID 18718593 2009 Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.

PMID 12522687 2002 Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.

PMID 20538126 2010 Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

PMID 17347910 2007 Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

PMID 9727746 1998 Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay.

PMID 9412789 1998 A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia.

PMID 9544746 1998 Low density lipoprotein receptor mutations in a selected population of individuals with moderate hypercholesterolemia.

PMID 24373485 2013 Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

PMID 8792825 1996 Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene.

PMID 11916007 2002 Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.

PMID 15477777 2004 [Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.].

PMID 23815734 2013 Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.

PMID 8004803 1994 An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her son with familial hypercholesterolemia.

PMID 23430853 2012 Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia.

PMID 28028493 2016 Mutation detection in Chinese patients with familial hypercholesterolemia.

PMID 20018285 2010 Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors.

PMID 15823288 2005 The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.

PMID 25234566 2015 Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity.

PMID 28391882 2017 Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.

PMID 23064986 2012 Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

PMID 29576406 2019 Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia.

PMID 19717150 2010 Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia.

PMID 25014035 2014 Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.

PMID 21642693 2011 Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes.

PMID 23369702 2013 The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia.

PMID 25412742 2015 Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement.

PMID 23833242 2013 Inheritance pattern of familial hypercholesterolemia and markers of cardiovascular risk.

PMID 22095935 2012 Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.

PMID 27919364 2017 Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.

PMID 22881376 2012 Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

PMID 27831900 2016 Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

PMID 9767373 1998 Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response.

PMID 9452078 1998 Identification of three new mutations of the low density lipoprotein receptor gene in Dutch familial hypercholesterolemic patients.

PMID 9212177 1997 High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium.

PMID 9222758 1997 Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population.

PMID 8462973 1993 A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.

PMID 25545329 2015 Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.

PMID 19007590 2008 Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.

PMID 16205024 2005 Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.

PMID 27784735 2016 Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

PMID 22859806 2012 Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland.

PMID 15556094 2004 Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.

PMID 8740918 1996 Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.

PMID 10206683 1998 Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.

PMID 11005141 2000 Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia.

PMID 15256764 2004 Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.

PMID 25437892 2015 Prevalence and clinical correlates of familial hypercholesterolemia founder mutations in the general population.

PMID 11737238 2001 Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia.

PMID 10882754 2000 Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

PMID 9544745 1998 Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia. The Familial Hypercholesterolaemia Regression Study Group.

PMID 18648394 2009 LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

PMID 4750422 1973 Epidermal growth factor. Location of disulfide bonds.

PMID 3495735 1987 The solution structure of human epidermal growth factor.

PMID 11317361 2001 Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.

PMID 8850176 1996 Phenotypic presentation of the FH-Cincinnati type 5 low density lipoprotein receptor mutation.

PMID 16286607 2005 Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial.

PMID 19837725 2010 Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.

PMID 10668928 1999 Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene.

PMID 23535506 2013 The genetic spectrum of familial hypercholesterolemia in Pakistan.

PMID 2901412 1988 Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport.

PMID 23155708 2012 Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia.

PMID 9763532 1998 Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.

PMID 19013141 2009 A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: application of the CD3/CD28 assay in lymphocytes.

PMID 1493640 1992 Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada.

PMID 2726768 1989 Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.

PMID 7583548 1995 Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.

PMID 1884514 1991 Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK.

PMID 11031227 2000 R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

PMID 3955657 1986 The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors.

PMID 11857755 2002 Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.

PMID 10090484 1999 Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

PMID 21990180 2012 Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.

PMID 21376320 2011 Array-based resequencing for mutations causing familial hypercholesterolemia.

PMID 22353362 2012 Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.

PMID 18239150 2008 Vascular calcifications in homozygote familial hypercholesterolemia.

PMID 18929537 2008 Molecular modeling of D151Y and M391T mutations in the LDL receptor.

PMID 2698793 1989 [The reaction of a population of redbacked voles (Clethrionomys glareolus) to pollution of the biogeocenosis by 137Cs].

PMID 15523646 2004 LDL-receptor mutations in Europe.

PMID 11600564 2001 Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.

PMID 12730724 2003 Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.

PMID 30293936 2019 Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting.

PMID 27816806 2016 Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.

PMID 9026534 1996 Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.

PMID 21276076 2011 Increased intima-media thickness in carriers of the ldl-receptor defective gene versus noncarriers with newly detected asymptomatic severe hypercholesterolemia.

PMID 9698020 1998 Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolaemia.

PMID 22509010 2012 Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.

PMID 3263645 1988 Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.

PMID 15576851 2005 Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia.

PMID 1634609 1992 The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.

PMID 9409302 1997 Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study.

PMID 9195230 1997 Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies.

PMID 7581403 1995 A de novo duplication in the low density lipoprotein receptor gene.

PMID 14616764 2003 FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia.

PMID 19208450 2009 Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.

PMID 27578127 2017 Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.

PMID 15823276 2005 The molecular basis of familial hypercholesterolaemia in Turkish patients.

PMID 25043216 2014 Early development of xanthoma and coronary disease in a young female with homozygous familial hypercholesterolemia.

PMID 20703241 2010 Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.

PMID 23158915 2012 [The phenotypes of a hypercholesterolemia family with low density lipoprotein receptor exon 13 A606T mutation].

PMID 11484166 2001 [A gene analysis of the low density lipoprotein receptor in Chinese with homozygous familial hyperchol-esterolemia].

PMID 23340035 2013 Coronary computed tomographic angiographic findings in asymptomatic patients with heterozygous familial hypercholesterolemia and null allele low-density lipoprotein receptor mutations.

PMID 9712531 1998 Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B.

PMID 10422804 1999 Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.

PMID 11040093 2000 Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.

PMID 15100232 2004 Global defects in the expression and function of the low density lipoprotein receptor (LDLR) associated with two familial hypercholesterolemia mutations resulting in misfolding of the LDLR epidermal growth factor-AB pair.

PMID 20144596 2010 Moderate phenotypic expression of familial hypercholesterolemia in Tunisia.

PMID 22294733 2012 Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.

PMID 18757057 2009 Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.

PMID 27206935 2017 Genetic diagnosis of familial hypercholesterolemia in Han Chinese.

PMID 21511053 2011 Role of an intramolecular contact on lipoprotein uptake by the LDL receptor.

PMID 18847225 2008 Molecular studies of pH-dependent ligand interactions with the low-density lipoprotein receptor.

PMID 29233637 2019 Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.

PMID 15890894 2005 Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia.

PMID 17673191 2007 Complement regulation in murine and human hypercholesterolemia and role in the control of macrophage and smooth muscle cell proliferation.

PMID 8664907 1996 A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects.

PMID 19073363 2009 Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients.

PMID 19538517 2009 Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia.

PMID 18700895 2008 Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.

PMID 11295843 2001 Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X.

PMID 26510755 2016 Effect of Statin Therapy in 4-Year-Old Dichorionic Diamniotic Twins with Familial Hypercholesterolemia Showing Multiple Xanthomas.

PMID 25962062 2015 Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

PMID 10447263 1999 Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online.

PMID 8347689 1993 Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.

PMID 16343504 2006 Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison.

PMID 19411563 2009 Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

PMID 7649549 1995 Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.

PMID 16806138 2006 Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.

PMID 26020417 2016 Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

PMID 22160468 2012 A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.

PMID 20019594 2010 Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population.

PMID 11317362 2001 LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy.

PMID 8141835 1993 An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor.

PMID 12052488 2002 Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene.

PMID 24956927 2014 Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

PMID 10704205 2000 Solution structure of the sixth LDL-A module of the LDL receptor.

PMID 9452094 1998 Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.

PMID 9733232 1998 Exon 4, and in particular codon 152 of the LDL receptor gene, is a hot spot for point mutations.

PMID 15200491 2004 FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.

PMID 10066037 1999 Genetic investigation of patients with hypercholesterolemia type IIa.

PMID 10807540 2000 Co-segregation of elevated LDL with a novel mutation (D92K) of the LDL receptor in a kindred with multiple lipoprotein abnormalities.

PMID 10208490 1999 Contribution of receptor negative versus receptor defective mutations in the LDL-receptor gene to angiographically assessed coronary artery disease among young (25-49 years) versus middle-aged (50-64 years) men.

PMID 9039985 1997 Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

PMID 7709162 1994 Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene.

PMID 25846081 2015 Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.

PMID 27824480 2017 The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

PMID 1057090 1975 Editorial: Practice opportunities.

PMID 10570905 1999 A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia.

PMID 10611908 1999 Familial hypercholesterolemia in Utah kindred with novel 2412-6 Ins G mutations in exon 17 of the LDL receptor gene.

PMID 20217239 2010 Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia.

PMID 19487412 2009 Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemia.

PMID 28235710 2017 The genetic spectrum of familial hypercholesterolemia in the central south region of China.

PMID 26927322 2016 Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.

PMID 3343347 1988 Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions.

PMID 22311046 2012 Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.

PMID 15303010 2004 New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis.

PMID 21538688 2011 Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.

PMID 24075752 2013 Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.

PMID 27783906 2016 Child-Parent Familial Hypercholesterolemia Screening in Primary Care.

PMID 25921077 2015 Clinical features of bilateral temporal bone xanthoma with LDLR gene mutation.

PMID 1714262 1991 [Exophthalmos caused by orbital metastasis of prostatic carcinoma].

PMID 9237502 1997 Mutation D200Y was found in a single FH family, while mutation E207K was detected in two apparently unrelated Indian families on a new mutual haplotype.

PMID 12414836 2002 CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia.

PMID 2600087 1989 Different combinations of cysteine-rich repeats mediate binding of low density lipoprotein receptor to two different proteins.

PMID 26433113 2015 Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes.

PMID 25911074 2016 Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.

PMID 14749324 2004 The role of a conserved acidic residue in calcium-dependent protein folding for a low density lipoprotein (LDL)-A module: implications in structure and function for the LDL receptor superfamily.

PMID 17406740 2007 [Molecular diagnosis and combined lipid lowering therapy of heterozygous familial hypercholesterolemia. Report of one case].

PMID 7635482 1995 Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.

PMID 26802169 2016 Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

PMID 22528129 2012 Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).

PMID 22425645 2012 The impact of severe LDL receptor mutations on SREBP-pathway regulation in homozygous familial hypercholesterolemia (FH).

PMID 23680767 2013 The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

PMID 27294413 2016 Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.

PMID 11013454 2000 Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient.

PMID 7635461 1995 An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.

PMID 14624402 2003 Increased carotid artery intima-media thickness is associated with a novel mutation of low-density lipoprotein receptor independently of major cardiovascular risk factors.

PMID 9143924 1997 Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.

PMID 9147888 1996 Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia.

PMID 22129472 2012 The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.

PMID 9610768 1998 A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi.

PMID 10484771 1999 Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia.

PMID 17625505 2007 A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia.

PMID 8589690 1995 A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).

PMID 8664911 1996 An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants.

PMID 7937987 1994 A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.

PMID 9237510 1997 A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia.

PMID 8831933 1996 Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.

PMID 9660059 1998 A 'de novo' point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia.

PMID 19837725 2010 Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

PMID 10200052 1998 A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping. Mutations in brief no. 139. Online.

PMID 15885240 2005 A modified conformation sensitive gel electrophoresis (CSGE) method for rapid and accurate detection of low density lipoprotein (LDL) receptor gene mutations in Familial Hypercholesterolemia.

PMID 24450200 2013 [New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk].

PMID 8645375 1996 A novel single base deletion in the LDLR gene (211delG): Effect on serum lipid profiles and the influence of other genetic polymorphisms in the ACE, APOE and APOB genes.

PMID 10089940 1998 Familial hypercholesterolemia kindred in Utah with novel C54S mutations of the LDL receptor gene.

PMID 10926901 2000 Identification of two LDL-receptor mutations causing familial hypercholesterolemia in Indian subjects by a simplified rapid PCR-heteroduplex method.

PMID 20452591 2010 Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations.

PMID 21955034 2012 Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis.

PMID 28502510 2018 Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.

PMID 25936346 2015 In this study, we report a homozygous LDLR mutation (c.298G>A) in a familial hypercholesterolemia patient, who exhibited intracranial cholesterol deposition, which is a rare addition to the common FH phenotypes.

PMID 12227864 2002 Japanese familial hypercholesterolaemia with a 327insC mutation in the LDL receptor gene.

PMID 7586640 1995 Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease.

PMID 9889019 1998 Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia.

PMID 10611909 1999 Familial hypercholesterolemia in Utah kindred with novel R103W mutations in exon 4 of the LDL receptor gene.

PMID 17445538 2007 Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia.

PMID 31689621 2019 Functional analysis of six uncharacterised mutations in LDLR gene.

PMID 14570618 2003 Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia.

PMID 11506462 2001 A novel missense mutation C127R (FH Zagreb) in the LDL-receptor gene.

PMID 12414836 2002 CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia.

PMID 9538514 1998 Two novel slavic point mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia from St. Petersburg, Russia.

PMID 7557960 1995 Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms.

PMID 19837725 2010 Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.

PMID 17935672 2007 Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.

PMID 11642133 2001 [Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg].

PMID 19797716 2009 Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.

PMID 11194025 2000 Screening for mutations in exon 4 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia: detection of a novel mutation D151Y by PCR-CFLP.

PMID 9544850 1998 The characterization of 60% of LDLR mutations in a representative sample of Greek FH heterozygotes provides a basis for the diagnosis of FH through DNA analysis in Greece, by using single-strand conformation polymorphism analysis followed by allele-specific oligonucleotide hybridization (exon 6 mutations) or restriction endonuclease analysis (C152R, V408M).

PMID 27578104 2017 Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward.

PMID 19837725 2010 Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.

PMID 11317361 2001 This report describes seven LDLR gene mutations accounting for FH in Northwestern Greece (81T>G, 517T>C, 858C>A, 1285G>A, 1352T>C, 1646G>A and 1775G>A) and their geographic distribution.

PMID 9452095 1998 Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.

PMID 10660340 1998 Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. Mutations in brief no. 194. Online.

PMID 15497035 2004 [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].

PMID 17694954 2006 Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).

PMID 9261272 1997 Familial moderate hypercholesterolemia caused by Asp235-->Glu mutation of the LDL receptor gene and co-occurrence of a de novo deletion of the LDL receptor gene in the same family.

PMID 11310584 2001 A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.

PMID 21457052 2011 A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia.

PMID 12673584 2003 [Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients].

PMID 9090532 1997 A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.

PMID 8168830 1994 A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).

PMID 8568489 1996 A compound heterozygote for familial hypercholesterolaemia with a homozygous mother.

PMID 28932795 2015 Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.

PMID 10924730 2000 FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia.

PMID 24420163 2014 Genetic and biochemical analyses in dyslipidemic patients undergoing LDL apheresis.

PMID 10422802 1999 Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.

PMID 29213121 2017 The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.

PMID 8956037 1996 A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.

PMID 8225312 1993 Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia.

PMID 8292093 1993 Cholesterol-lowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemia.

PMID 18339137 2008 Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.

PMID 9180246 1997 A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein.

PMID 25624525 2015 In this report, we describe an unclassified DNA variant (c.1813C>T; p.Leu605Leu) within exon 12 of the LDLR gene in a kindred in which familial hypercholesterolaemia is associated with c.1813C>T heterozygosity.

PMID 8828981 1996 A G-1-to-A acceptor splice site LDLR mutant allele leads to reduced relative transcript levels in patients with heterozygous familial hypercholesterolemia.

PMID 12485531 2002 [Relationship between changes in activities of low density lipoprotein receptor and gene mutation in familial hypercholesterolemia].

PMID 23021490 2012 In vitro functional characterization of missense mutations in the LDLR gene.

PMID 9500809 1997 Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family.

PMID 19837725 2010 Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.

PMID 22544571 2012 A novel pathogenic variant of the LDLR gene in the Asian population and its clinical correlation with familial hypercholesterolemia.

PMID 9767370 1998 New type of the internalization-defective low-density lipoprotein receptor owing to two-nucleotide deletion (2199delCA or 2201delCA) in Japanese patients with familial hypercholesterolaemia.

PMID 22417841 2012 Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.

PMID 7545204 1995 Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).

PMID 24918045 2014 Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum.

PMID 21872251 2011 A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.

rs113669610 in LDLR;MIR6886 gene and Hypercholesterolemia, Familial

PMID 15199436 2004 Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.

PMID 10532689 1999 Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

PMID 19446849 2009 The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

PMID 1446662 1992 A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.

PMID 10735632 2000 Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

PMID 15241806 2004 Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

PMID 16250003 2005 Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 12436241 2002 Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

PMID 9698020 1998 Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolaemia.

PMID 22698793 2012 The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

PMID 9026534 1996 Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.

PMID 19318025 2009 Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

PMID 9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

PMID 26036859 2016 Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

PMID 8535447 1995 Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia.

PMID 10559517 1999 Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 16389549 2006 Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

PMID 21310417 2011 An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

PMID 20236128 2010 Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.

PMID 11139254 2001 Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.

PMID 27680772 2016 Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.

PMID 11810272 2001 The molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 15477777 2004 [Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.].

PMID 11857755 2002 Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.

PMID 16159606 2005 Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.

PMID 16542394 2006 Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.

PMID 21925660 2011 Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality.

PMID 21722902 2011 Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.

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PMID 19837725 2010 Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms.

PMID 20506408 2010 Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.

PMID 9727746 1998 Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay.

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PMID 9763532 1998 Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.

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PMID 8478013 1993 Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.

PMID 7718024 1994 Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics.

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PMID 25461735 2015 Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

PMID 27824480 2017 The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

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PMID 23815734 2013 Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.

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PMID 25463123 2014 Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.

PMID 21865347 2011 An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

PMID 26892515 2016 The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

PMID 9974426 1999 Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.

PMID 25682026 2015 Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?

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PMID 17539906 2007 Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.

PMID 22883975 2012 Genetic analysis of familial hypercholesterolaemia in Western Australia.

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PMID 30586733 2019 Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction.

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PMID 11005141 2000 Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia.

PMID 17094996 2007 Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.

PMID 11313767 2001 A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

PMID 10208479 1999 The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.

PMID 11373616 2001 Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair.

PMID 15556093 2004 Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis.

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PMID 7573037 1995 Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.

PMID 11933210 2002 Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.

PMID 8831933 1996 Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.

PMID 20828696 2010 Update of the Portuguese Familial Hypercholesterolaemia Study.

PMID 19837725 2010 Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

PMID 20809525 2010 Molecular spectrum of autosomal dominant hypercholesterolemia in France.

PMID 17142622 2006 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

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PMID 23680767 2013 The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

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PMID 12417285 2002 Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.

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PMID 3495735 1987 The solution structure of human epidermal growth factor.

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PMID 10660340 1998 Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. Mutations in brief no. 194. Online.

PMID 9767373 1998 Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response.

PMID 15576851 2005 Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia.

PMID 10422804 1999 Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.

PMID 12052488 2002 Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene.

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PMID 7718023 1994 Detection of a single base deletion in codon 424 of the low density lipoprotein receptor gene in a Danish family with familial hypercholesterolemia.

PMID 24373485 2013 Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

PMID 23669246 2013 Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

PMID 9544745 1998 Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia. The Familial Hypercholesterolaemia Regression Study Group.

PMID 8678915 1996 Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia).

PMID 25807990 2015 Familial hypercholesterolaemia with tuberous and tendinous xanthomas: case report and mutation analysis.

PMID 11668640 2001 Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.

PMID 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

PMID 11257256 2001 Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families.

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PMID 7573037 1995 Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.

PMID 8882879 1996 Molecular genetics of familial hypercholesterolemia in Israel.

PMID 26343872 2015 Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis.

PMID 19318025 2009 Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

PMID 18400033 2008 Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.

PMID 20538126 2010 Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

PMID 28028493 2016 Mutation detection in Chinese patients with familial hypercholesterolemia.

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PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 25911074 2016 Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.

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PMID 19371225 2009 Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene.

PMID 25846081 2015 Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.

PMID 21382890 2011 Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

PMID 17094996 2007 Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.

PMID 20809525 2010 Molecular spectrum of autosomal dominant hypercholesterolemia in France.

PMID 15823288 2005 The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.

PMID 11857755 2002 Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.

PMID 26036859 2016 Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

PMID 11668640 2001 Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.

PMID 9254862 1997 Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics.

PMID 25154303 2014 Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.

PMID 21475731 2011 Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.

PMID 22390909 2012 Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.

PMID 10735632 2000 Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

PMID 15241806 2004 Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

PMID 7616128 1995 Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.

PMID 15199436 2004 Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.

PMID 12436241 2002 Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

PMID 10090473 1999 Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.

PMID 8535447 1995 Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia.

PMID 28126585 2017 Homozygous familial hypercholesterolemia: Summarized case reports.

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PMID 21376320 2011 Array-based resequencing for mutations causing familial hypercholesterolemia.

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PMID 17087781 2006 Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan.

PMID 9763532 1998 Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.

PMID 27824480 2017 The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

PMID 1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

PMID 25461735 2015 Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

PMID 23833242 2013 Inheritance pattern of familial hypercholesterolemia and markers of cardiovascular risk.

PMID 23669246 2013 Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

PMID 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 21722902 2011 Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.

PMID 17196209 2008 Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening.

PMID 16542394 2006 Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 16250003 2005 Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 21310417 2011 An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

PMID 11196104 2000 Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.

PMID 12124988 2002 The UMD-LDLR database: additions to the software and 490 new entries to the database.

PMID 11462246 2001 Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

PMID 26020417 2016 Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

PMID 7833932 1994 Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.

PMID 19411563 2009 Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

PMID 20663204 2010 Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.

PMID 25378237 2015 Functional characterization and classification of frequent low-density lipoprotein receptor variants.

PMID 14974088 2004 Molecular characterization of familial hypercholesterolemia in German and Greek patients.

PMID 20045108 2010 Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.

PMID 18700895 2008 Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.

PMID 17426749 2006 Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia.

PMID 16389549 2006 Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

PMID 14508510 2003 Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.

PMID 22698793 2012 The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

PMID 17539906 2007 Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.

PMID 11668627 2001 Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

PMID 25962062 2015 Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

PMID 10657581 2000 Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country.

PMID 9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

PMID 26892515 2016 The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

PMID 25921077 2015 Clinical features of bilateral temporal bone xanthoma with LDLR gene mutation.

PMID 19446849 2009 The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

PMID 10090484 1999 Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

PMID 9974426 1999 Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.

PMID 25014035 2014 Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.

PMID 16205024 2005 Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.

PMID 16806138 2006 Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.

PMID 15256764 2004 Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.

PMID 26632531 2016 Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations.

PMID 24163242 2014 Inferring primary tumor sites from mutation spectra: a meta-analysis of histology-specific aberrations in cancer-derived cell lines.

PMID 21865347 2011 An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

PMID 26077743 2015 Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.

PMID 20145306 2010 Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

PMID 24075752 2013 Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.

PMID 19118540 2009 Evaluation of high-resolution melting analysis for screening the LDL receptor gene.

PMID 11851376 2001 Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics.

PMID 16314194 2006 Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.

PMID 11435110 2001 Solution structure of the LDL receptor EGF-AB pair: a paradigm for the assembly of tandem calcium binding EGF domains.

PMID 4750422 1973 Epidermal growth factor. Location of disulfide bonds.

PMID 1301940 1992 Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.

PMID 1310940 1992 A comparative study on the catalytic properties of guanyl-specific ribonucleases.

PMID 18325082 2008 Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.

PMID 16627557 2006 Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?

PMID 3495735 1987 The solution structure of human epidermal growth factor.

PMID 11737238 2001 Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia.

PMID 22881376 2012 Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

PMID 8314561 1993 Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis.

PMID 12417285 2002 Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.

PMID 9889019 1998 Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia.

PMID 17142622 2006 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

PMID 22883975 2012 Genetic analysis of familial hypercholesterolaemia in Western Australia.

PMID 16465405 2006 Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.

PMID 11313767 2001 A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

PMID 7866407 1994 FH-Sydney 1 and 2: two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation.

PMID 8103503 1993 Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop.

PMID 11472756 2001 A novel splice-site mutation in intron 7 causes more severe hypercholesterolemia than a combined FH-FDB defect.

PMID 10782930 2000 Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.

PMID 10487495 1999 Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].

PMID 7548065 1995 Disulfide bridges of a cysteine-rich repeat of the LDL receptor ligand-binding domain.

PMID 7603991 1995 Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor.

PMID 7979249 1994 Structures and functions of multiligand lipoprotein receptors: macrophage scavenger receptors and LDL receptor-related protein (LRP).

PMID 11916007 2002 Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.

PMID 8005585 1994 A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region.

PMID 23815734 2013 Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.

PMID 9195230 1997 Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies.

PMID 9852677 1998 Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.

PMID 11600564 2001 Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.

PMID 9225977 1997 A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.

PMID 16159606 2005 Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.

PMID 8697568 1996 High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing.

PMID 9237502 1997 CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians.

PMID 11194027 2000 Mutation analysis of exon 9 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia.

PMID 11005141 2000 Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia.

PMID 7635461 1995 An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.

PMID 20236128 2010 Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.

PMID 16092059 2005 Mutations in low-density lipoprotein receptor gene as a cause of hypercholesterolemia in Taiwan.

PMID 20828696 2010 Update of the Portuguese Familial Hypercholesterolaemia Study.

PMID 25463123 2014 Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.

PMID 17347910 2007 Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

PMID 10980548 2000 Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.

PMID 21145767 2011 Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation.

PMID 8872473 1996 Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism.

PMID 9039985 1997 Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

PMID 24373485 2013 Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

rs1057519691 in PCSK9 gene and Hypercholesterolemia, Familial

PMID 27998977 2017 The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.

PMID 24115837 2013 The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.

PMID 26374825 2015 Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

PMID 22683120 2012 Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.

PMID 26036859 2016 Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

rs7256672 in PDE4A gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs313624 in PRKCSH gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs3745264 in RAVER1 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs793888522 in STAP1 gene and Hypercholesterolemia, Familial

PMID 26036859 2016 Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

rs280519 in TYK2 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs2033483 in ZNF317 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs10422772 in ZNF561 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs10405652 in ZNF561-AS1 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs10418705 in ZNF562 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs12610507 in ZNF563 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs286262 in ZNF823 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs10415132 in ZNF846 gene and Hypercholesterolemia, Familial

PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.